title: Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
abstract: BACKGROUND
  Head-shaking stereotypies have been described in patients with neurological impairment. We noted an unusual preponderance of head shaking in patients with rhombencephalosynapsis (RES). We sought to delineate the movements further and determine whether oculomotor and vestibular testing could reveal their cause.
  
  
  METHODS
  Information was collected from direct observation, video review and parental questionnaire from 59 patients with RES. Oculomotor and vestibular testing was performed in 4 children.
  
  
  RESULTS
  Of 59 patients, 50 had persistent head shaking that was often observed years before RES was recognized. Three affected children demonstrated abnormal central vestibular processing.
  
  
  CONCLUSIONS
  Head-shaking is common in RES. These characteristic movements may provide input to a defective vestibular system or may represent a motor pattern that is usually suppressed by vestibular feedback. Persistent head shaking should alert clinicians to the possible presence of a congenital hindbrain abnormality that affects the vestibulocerebellum, particularly RES.
authors.affiliation: Department of Neurology, University of Washington, Seattle, Washington, USA.
authors.forename: Hannah M
authors.initials: HM
authors.lastname: Tully
authors.forename: Jennifer C
authors.initials: JC
authors.lastname: Dempsey
authors.forename: Gisele E
authors.initials: GE
authors.lastname: Ishak
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Mink
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: Sidney M
authors.initials: SM
authors.lastname: Gospe
authors.forename: Avery
authors.initials: A
authors.lastname: Weiss
authors.forename: James O
authors.initials: JO
authors.lastname: Phillips
authors.forename: Dan
authors.initials: D
authors.lastname: Doherty
mesh_terms: D000293:Adolescent; D000328:Adult; D002526:Cerebellar Diseases / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005260:Female; D019416:Head Movements / Q000502:physiology*; D006801:Humans; D007223:Infant; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications*; D019956:Stereotypic Movement Disorder / Q000150:complications*; D015837:Vestibular Diseases / Q000150:complications*; D014724:Vestibular Function Tests; D055815:Young Adult
keywords: bobble head doll syndrome; movement disorder; rhombencephalosynapsis; stereotypy; vestibular dysfunction